title: PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma.
abstract: The detection of PHOX2B mutations in a small proportion of patients affected with either familial or sporadic neuroblastoma (NB), has arisen interest on the possible pathogenic role of this gene in the disease determination. In this light, we have carried out a quantitative expression analysis of PHOX2B and its paralogue PHOX2A on a panel of NB cell lines and NB tumour samples to identify a possible differential expression between NB cells and their normal counterpart (adrenal medulla cells). Our results revealed that both PHOX2A and PHOX2B are over-expressed in tumour samples and NB cell lines. Particularly, the expression levels of the two genes in NB cell lines show a highly significant correlation, suggesting their possible synergistic role or a coordinated expression regulation. Furthermore, PHOX2 gene over-expression in NB tumours and cell lines suggests these genes may be widely involved in NB development through either a direct mechanism of up-regulation or a failure in maintaining proper transcript levels after embryonic development.
authors.affiliation: Translational Pediatric Oncology and Italian Neuroblastoma Foundation, National Cancer Research Institute, 16132 Genoa, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Longo
authors.forename: S
authors.initials: S
authors.lastname: Borghini
authors.forename: F
authors.initials: F
authors.lastname: Schena
authors.forename: S
authors.initials: S
authors.lastname: Parodi
authors.forename: D
authors.initials: D
authors.lastname: Albino
authors.forename: T
authors.initials: T
authors.lastname: Bachetti
authors.forename: L
authors.initials: L
authors.lastname: Da Prato
authors.forename: M
authors.initials: M
authors.lastname: Truini
authors.forename: C
authors.initials: C
authors.lastname: Gambini
authors.forename: G P
authors.initials: GP
authors.lastname: Tonini
authors.forename: I
authors.initials: I
authors.lastname: Ceccherini
authors.forename: P
authors.initials: P
authors.lastname: Perri
mesh_terms: D000313:Adrenal Medulla / Q000378:metabolism; D045744:Cell Line, Tumor; D004252:DNA Mutational Analysis; D015972:Gene Expression Regulation, Neoplastic; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009447:Neuroblastoma / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D015854:Up-Regulation
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; C491061:PHOX2A protein, human; D014157:Transcription Factors